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Chromosome 1 open reading frame 87 (C1orf87)

Target
C1orf87
Molecular classification
Other (putative EF-hand domain-containing protein, not classified as receptor, enzyme, ion channel, or transporter)
01

Overview

Chromosome 1 open reading frame 87 (C1orf87) encodes a protein of uncertain function, predicted to contain an EF-hand calcium-binding domain[3][6]. It is referred to by several aliases, including CREF and carcinoma-related EF-hand protein. C1orf87 is a protein-coding gene identified by multiple gene identifier databases (e.g., HGNC 28547, NCBI Gene 127795, UniProt Q8N0U7)[3][4][7]. Gene Ontology annotations suggest a function in calcium ion binding, but the biological and molecular role of the protein remains unclear, with no well-established physiological or pathological mechanisms[3][7]. Diseases associated with variants in C1orf87 include autosomal recessive distal hereditary motor neuronopathy and possible links to autism spectrum disorder, based on genetic association data[3]. However, there is currently no evidence that it directly serves as a therapeutic target or that it interacts with any approved or investigational drugs[3][6][7]. C1orf87 is thus classified as an "uncharacterized protein" with limited information on its function, disease roles, or therapeutic relevance[3][6].

Other names
CREFuncharacterized protein C1orf87carcinoma-related EF-hand proteinMGC34837
02

Biological functions

calcium ion binding (predicted by gene ontology)
03

Disease associations

Distal hereditary motor neuronopathy (autosomal recessive)Autism spectrum disorder (possible association)

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